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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 11-64925875-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64925875&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 64925875,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_006244.4",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "NM_006244.4",
          "protein_id": "NP_006235.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000164133.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006244.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000164133.7",
          "protein_id": "ENSP00000164133.2",
          "transcript_support_level": 1,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006244.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000164133.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872729.1",
          "protein_id": "ENSP00000542788.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872729.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872717.1",
          "protein_id": "ENSP00000542776.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872717.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872718.1",
          "protein_id": "ENSP00000542777.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872718.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872719.1",
          "protein_id": "ENSP00000542778.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872719.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872720.1",
          "protein_id": "ENSP00000542779.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872720.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872721.1",
          "protein_id": "ENSP00000542780.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872721.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872722.1",
          "protein_id": "ENSP00000542781.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872722.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872723.1",
          "protein_id": "ENSP00000542782.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872723.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872724.1",
          "protein_id": "ENSP00000542783.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872724.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872726.1",
          "protein_id": "ENSP00000542785.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872726.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872727.1",
          "protein_id": "ENSP00000542786.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872727.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872728.1",
          "protein_id": "ENSP00000542787.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872728.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000921545.1",
          "protein_id": "ENSP00000591604.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000921545.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000966954.1",
          "protein_id": "ENSP00000637013.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966954.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000966955.1",
          "protein_id": "ENSP00000637014.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966955.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000966956.1",
          "protein_id": "ENSP00000637015.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966956.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000966958.1",
          "protein_id": "ENSP00000637017.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966958.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPP2R5B",
          "gene_hgnc_id": 9310,
          "hgvs_c": "c.141C>T",
          "hgvs_p": "p.Ser47Ser",
          "transcript": "ENST00000872732.1",
          "protein_id": "ENSP00000542791.1",
          "transcript_support_level": null,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 141,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}